Xeroderma pigmentosum: BCCs may occur during the whole life period but not always as multiple lesions; other cutaneous malignancies such as squamous cell carcinoma and malignant melonoma may also occur. Photosensitivity, ephelids, lentiginosis and extracutaneous manifestations (eg, eye, neurologic involvement) are other findings of xeroderma pigmentosum.

Hypohidrotic ectodermal dysplasia: Hypotrichosis is the common main feature of both syndromes; but coarse facies and dental abnormalities are typical for hypohidrotic ectodermal dysplasia. In hypohidrotic ectodermal dysplasia, hairs of patients are blond, fine and scaly.

Who is at Risk for Developing this Disease?

Other family members of the patients are at risk for developing the disease. Phenotype is variable within an affected family, and all family members should be examined.

What is the Cause of the Disease?

Etiology

Pathophysiology

Basex-Dupré-Christol syndrome is a genetic disorder with X-dominant inheritance. The gene defect is on Xq24-27.1.

Systemic Implications and Complications

Dysmorphic features: Nasal wings may be flat.

Treatment Options

Photoprotection

Therapy for BCCs:

-Excision

-Imiquimod

-Cryotherapy

-Mohs surgery

-Systemic retinoids (suppressive therapy)

Optimal Therapeutic Approach for this Disease

There is no specific treatment for the syndrome itself. The choice of treatment for BCCs depends on the number of lesions, their site, and individual characteristics. Local destructive procedures, surgical excisions (including Mohs surgery), photodynamic therapy, and medical treatments such as imiquimod may all be appropriate. Photodynamic therapy may also be an option for treating BCCs.

Patient Management

The family should be informed about the course of the disease. Preventive measures including use of sunscreens is essential. Regular tumor screening for BCCs should be initiated once to twice a year beginning in early childhood to all members of the family. Early tumors may be subtle and can be misdiagnosed.

(An illustrated book giving summarized information about different dermatologic diseases affecting the nose and ears. There are cilinical pictures about various genodermatoses including Bazex-Dupré-Christol syndrome.)